(Q50501895)

14 March 2018

title

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (English)

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14 March 2018

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1

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author name string

Meins M

2

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14 March 2018

Sadeghi M

3

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Grundmann K

4

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Apfelstedt-Sylla E

5

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Zrenner E

6

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Rosenberg T

7

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Gal A

8

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publication date

1 January 1999

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14 March 2018

published in

Human Mutation

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14 March 2018

volume

13

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issue

2

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14 March 2018

page(s)

133-140

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14 March 2018

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins

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Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B

21 January 2018

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Phylogenetic analysis of the myosin superfamily.

21 January 2018

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Conservation within the myosin motor domain: implications for structure and function

21 January 2018

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A type VII myosin encoded by the mouse deafness gene shaker-1

21 January 2018

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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

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The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)

21 January 2018

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Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

21 January 2018

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

21 January 2018

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Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

21 January 2018

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A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

21 January 2018

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Mutation analysis of the mouse myosin VIIA deafness gene

21 January 2018

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Splicing of messenger RNA precursors

21 January 2018

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Three-dimensional structure of myosin subfragment-1: a molecular motor

21 January 2018

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

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Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

21 January 2018

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A2%3C133%3A%3AAID-HUMU5%3E3.0.CO%3B2-U

10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U

21 January 2018

Identifiers

DOI

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14 March 2018

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14 March 2018